PML-RARA, t(15;17)(q22;q21), RT-PCR Fusion Transcript Detection

Alternate test name

PML-RARA Reverse Transcription Polymerase Chain Reaction (RT-PCR) Qualitative Testing

Gene name / Alternate gene name

Chromosome 15 & 17 fusion, Chromosome 15 & 17 translocation, t(15;17)

Lab area

Haematopathology - Molecular

Method and equipment

Reverse Transcription PCR followed by Gel Electrophoresis.

Expected turn-around time

3 business days

Specimen type

Bone Marrow Aspirate or Blood in EDTA (Lavender top tube) at room temperature (minimum 2mL)

Specimen requirements

Bone Marrow Aspirate or Blood in EDTA (Lavender top tube) at room temperature (minimum 2mL)

Storage and transportation

Keep specimen at room temperature

Shipping information

The Hospital for Sick Children

Rapid Response Laboratory

555 University Avenue, Room 3642

Toronto, ON

Canada

M5G 1X8

Phone: 416-813-7200

Toll Free: 1-855-381-3212

Hours: 7 days/week, 24 hours/day

Requisition

PML-RARA, t(15;17)(q22;q21), RT-PCR Fusion Transcript Detection - requisition

Background and clinical significance

The PML-RARA fusion is a genetic abnormality characteristic of acute promyelocytic leukemia (APL). It arises from a translocation (a swap of genetic material) between chromosomes 15 and 17, specifically fusing parts of the PML (promyelocytic leukemia) gene with the RARA (retinoic acid receptor alpha) gene. This fusion protein disrupts normal myeloid cell differentiation, leading to the accumulation of abnormal promyelocytes in the bone marrow.